title: Caspase recruitment domain 15 gene haplotypes in sarcoidosis.
abstract: Sarcoidosis is a systematic granulomatous disorder. Genetic susceptibility could play a central role in the disease development and progression. In this study, we investigated whether caspase recruitment domain 15 (CARD15) gene haplotypes are associated with the onset or the clinical course of sarcoidosis. Three hundred Caucasian sarcoidosis patients and 381 matched controls were included. Eight haplotype-tagging single nucleotide polymorphisms (SNPs) in the CARD15 gene were examined by mass spectrometry-based SNP genotyping. By haplotype analysis, mutations located in between tested SNPs can also be identified. Therefore, we can conclude that there is no association between the CARD15 gene and the development or a special phenotype of sarcoidosis in our cohort.
authors.affiliation: Department of Internal Medicine II, Division of Pneumology, University of Bonn, Bonn, Germany. stefan.pabst@ukb.uni-bonn.de
authors.forename: S
authors.initials: S
authors.lastname: Pabst
authors.forename: M
authors.initials: M
authors.lastname: Golebiewski
authors.forename: S
authors.initials: S
authors.lastname: Herms
authors.forename: A
authors.initials: A
authors.lastname: Karpushova
authors.forename: A
authors.initials: A
authors.lastname: Díaz-Lacava
authors.forename: M
authors.initials: M
authors.lastname: Walier
authors.forename: S
authors.initials: S
authors.lastname: Zimmer
authors.forename: S
authors.initials: S
authors.lastname: Cichon
authors.forename: T F
authors.initials: TF
authors.lastname: Wienker
authors.forename: M M
authors.initials: MM
authors.lastname: Nöthen
authors.forename: G
authors.initials: G
authors.lastname: Nickenig
authors.forename: R
authors.initials: R
authors.lastname: Meyer
authors.forename: D
authors.initials: D
authors.lastname: Skowasch
authors.forename: C
authors.initials: C
authors.lastname: Grohé
mesh_terms: D000328:Adult; D000368:Aged; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein; D020641:Polymorphism, Single Nucleotide; D012507:Sarcoidosis / Q000235:genetics* / Q000473:pathology; D044465:White People / Q000235:genetics
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein